טוען...
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation
We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be de novo. This report expands the severity of the phenoty...
שמור ב:
| הוצא לאור ב: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Cold Spring Harbor Laboratory Press
2017
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5171695/ https://ncbi.nlm.nih.gov/pubmed/28050599 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001156 |
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